Rare, But Not Alone

by Andrea Wszelaki

All my life, my family and I have known there was something different about my body. I battled chronic infection after chronic infection and suffered from pain and limited mobility. Doctors lacked answers. Sadly, many of them also lacked the motivation to look for them.

As I grew sicker and more physically disabled with age, my parents devoted themselves to conducting the much needed research for my yet-unknown mystery conditions and tirelessly took me to medical appointments. It wasn’t until I was 24 that I received my first major diagnosis of a rare condition. I have Klippel-Feil Syndrome, a congenital cervical spinal deformity which also effected my kidneys and other organs.

In the years following, I was subsequently diagnosed with Common Variable Immunodeficency for which I now must receive regular infusion therapy, and a movement disorder called Segmental Spinal Myoclunus which causes painful and debilitating muscle spasms.

Upon learning these diagnoses, I’ve come to realize that it did not directly improve my life…nor did it make it worse. However, it empowered me to find the answers and make the changes that ultimately improved my quality of life. On the emotional spectrum, a diagnosis gave me validation that I wasn’t crazy: the things I’ve felt all the years were real and beyond my control.

Moreover, the unknown monsters I battled now had names. Names to my diseases meant that I was not alone in my struggle. Rare I may be, but alone I am not! Physically, I could learn about what was actually happening to my body. I finally understood the origins of my pain, had a long-term forecast of how the diseases would progress, and had options in combating my infections and other symptoms. Treatments and answers that once were only hopes and dreams now were my reality- although they were limited.

A diagnosis was information, and information was empowerment. I wanted everyone else living with a rare or yet-unknown condition to also be empowered. Therefore, my mother and I, along with two other cofounders we met through support groups, set into motion a plan to establish a non-profit organization dedicated to research and advocacy for people effected by Klippel-Feil Syndrome. Known as the Klippel-Feil Syndrome Alliance, our organization has a network of patients across the globe. All of us at one time, never imagined being able to talk to another person who completely understood the complexities of health and life with KFS – until now.

Today, I’ve come so far. I am doing things I never thought would be possible. I used to worry about being able to graduate from school because I was too ill, or if I could make it to a family gathering because I couldn’t stand the pain. At one time, I couldn’t write me own name or wash my own hair. I feared having to live another year because of how tired my body was, and now I’m excited about my future! I recently married my best friend, and we are expecting our first child in December.

My life still has many unknown factors. I must learn answers along the way because research into my conditions is still so limited. For example, I am now a case study with several of my specialists because they’ve never treated a patient with my diseases who is also pregnant. But I’m used to the unknown, and eager to learn and enable others to learn as well. I cannot change what I have or control my health and future. However, I am optimistic. Moreover, I hope that one day rare does not equate to struggle or lack of answers and options. With the help of organizations like yours and patients like us; future rare disease patients will have more answers and real hope!

Filed Under: Insights, Patient Stories

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